Advances in the medical care of epidermolysis bullosa (EB) have led to the development of National Service Centers for EB in many countries worldwide. The exemplary model of care to children and adults with EB in the United Kingdom, combined with the knowledge that people with EB were travelling to the United Kingdom for treatment, encouraged the development of the Irish national service. Dystrophic Epidermolysis Bullosa Research Association of Ireland, founded in 1988 played a pivotal role in this development.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.det.2010.02.017 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients' perspective.
Orphanet J Rare Dis
January 2025
EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
Background: Epidermolysis bullosa (EB) is a serious, painful, hereditary and still incurable genetic condition. Due to blistering or wounds on the skin caused by the slightest touch, a person suffering from epidermolysis bullosa is prevented from achieving the same quality of life as a healthy person. Until now, psychosocial research has focused on the description of the problems of people living with the disease.
View Article and Find Full Text PDFFilsuvez (Birch Triterpenes) Topical Gel.
Skinmed
January 2025
Baylor Scott & White University Hospital, Dallas, TX.
Filsuvez (birch triterpenes) topical gel received approval in 2023 for the treatment of epidermolysis bullosa (EB) in pediatric patients (aged ≥6 months) and adults. It promotes wound healing by modulating inflammation, encouraging new tissue formation, and maintaining the skin barrier. In a randomized, double-blind, controlled, parallel-group, phase III trial (EASE, NCT03068780), 223 patients were randomly assigned to two groups: the first group received treatment with birch triterpenes topical gel (study gel, n = 109), and the second group received treatment with vehicle gel (n = 114).
View Article and Find Full Text PDFWhen care hurts: parents' experiences of caring for a child with epidermolysis bullosa.
Orphanet J Rare Dis
December 2024
Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.
Results: The purpose of this study was to explore parental experiences of caring for a child with EB.
Advanced phasing techniques in congenital skin diseases.
J Dermatol
December 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.
View Article and Find Full Text PDFKLHL24 associated cardiomyopathy: Gene function to clinical management.
Gene
March 2025
Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun, Jilin, 130021, China. Electronic address:
Background: KLHL24 (Kelch-like protein 24) is a significant component of the ubiquitin-proteasome system (UPS), involved in regulating protein turnover through targeted ubiquitination and degradation. Germline mutations in KLHL24 gene have been known to cause Epidermolysis Bullosa Simplex characterized by skin fragility but has recently been found to cause Cardiomyopathy.
Main Body: Various cardiomyopathies, including hypertrophic cardiomyopathy and dilated cardiomyopathy, leading to abnormal protein degradation and affecting the stability and function of essential cardiac proteins which finally results into structural and functional abnormalities in cardiac muscle.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!